Variant report

Variant	rs74085216
Chromosome Location	chr12:48173837-48173838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:48173720-48173870	HCM	heart:	n/a	n/a
2	CTCF	chr12:48172681-48174158	SK-N-SH	brain:	n/a	chr12:48173258-48173276 chr12:48173260-48173273 chr12:48173264-48173273 chr12:48173259-48173275 chr12:48173260-48173273 chr12:48173253-48173274 chr12:48173261-48173271
3	POLR2A	chr12:48173614-48174352	U87	brain:	n/a	n/a
4	POLR2A	chr12:48173824-48174030	MCF-7	breast:	n/a	n/a
5	CTCF	chr12:48173800-48173950	AoAF	blood vessel:	n/a	n/a
6	CTCF	chr12:48172652-48173864	A549	lung:	n/a	chr12:48173258-48173276 chr12:48173260-48173273 chr12:48173264-48173273 chr12:48173259-48173275 chr12:48173260-48173273 chr12:48173253-48173274 chr12:48173261-48173271
7	POLR2A	chr12:48172670-48174400	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr12:48173035-48174254	SK-N-SH	brain:	n/a	n/a
9	STAT5A	chr12:48173611-48174383	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:48172706-48174303	A549	lung:	n/a	n/a
11	POLR2A	chr12:48173049-48174386	K562	blood:	n/a	n/a
12	POLR2A	chr12:48173029-48174300	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr12:48172869-48174326	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr12:48168539-48189348	K562	blood:	n/a	n/a
15	POLR2A	chr12:48173772-48174058	A549	lung:	n/a	n/a
16	MXI1	chr12:48173066-48173863	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr12:48172484-48174533	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr12:48172500-48174440	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr12:48173085-48174299	K562	blood:	n/a	n/a
20	TCF12	chr12:48173068-48173943	ECC-1	luminal epithelium:	n/a	chr12:48173438-48173446
21	POLR2A	chr12:48172711-48174370	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr12:48173617-48174231	GM12892	blood:	n/a	n/a
23	POLR2A	chr12:48172863-48174311	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr12:48173798-48174119	GM12878	blood:	n/a	n/a
25	JUND	chr12:48173775-48174259	A549	lung:	n/a	n/a
26	POLR2A	chr12:48172927-48174172	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:48172975-48174454	H1-hESC	embryonic stem cell:	n/a	n/a
28	SMC3	chr12:48172568-48174256	SK-N-SH	brain:	n/a	chr12:48173267-48173274 chr12:48173260-48173274
29	CTCF	chr12:48173820-48173970	HA-sp	spinal cord:	n/a	n/a
30	POLR2A	chr12:48173754-48174291	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr12:48172625-48174350	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr12:48173779-48173915	A549	lung:	n/a	n/a
33	POLR2A	chr12:48172733-48176227	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr12:48172713-48174301	PANC-1	pancreas:	n/a	n/a
35	SIN3A	chr12:48173021-48173943	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr12:48172812-48174313	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr12:48172598-48174336	A549	lung:	n/a	n/a
38	POLR2A	chr12:48172652-48174350	Hela-S3	cervix:	n/a	n/a
39	BCL3	chr12:48172541-48174027	A549	lung:	n/a	chr12:48173014-48173027
40	POLR2A	chr12:48173006-48174244	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr12:48172518-48174340	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr12:48172596-48174362	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr12:48173742-48174315	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr12:48173739-48174281	A549	lung:	n/a	n/a
45	MAFK	chr12:48173630-48174244	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr12:48172715-48174317	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr12:48173653-48174258	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48173549..48176410-chr12:48184370..48186817,3	K562	blood:
2	chr12:48164603..48170216-chr12:48170812..48178110,12	MCF-7	breast:
3	chr12:48135977..48137705-chr12:48172310..48175279,2	K562	blood:
4	chr12:48110968..48111968-chr12:48172830..48173855,5	K562	blood:
5	chr12:48128880..48137705-chr12:48169546..48175532,12	K562	blood:
6	chr12:48100044..48102327-chr12:48172269..48174749,2	K562	blood:
7	chr12:48099987..48101621-chr12:48172396..48174899,2	MCF-7	breast:
8	chr12:48111048..48111944-chr12:48172793..48174026,6	MCF-7	breast:
9	chr12:48173236..48178017-chr12:48212091..48216621,8	MCF-7	breast:
10	chr12:48111607..48113554-chr12:48173778..48176264,2	K562	blood:
11	chr12:48172435..48173989-chr12:48211088..48213424,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268069	TF binding region
ENSG00000061273	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000079337	Chromatin interaction
ENSG00000211584	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11168264	1.00[EUR][1000 genomes]
rs11168288	1.00[EUR][1000 genomes]
rs11168290	1.00[EUR][1000 genomes]
rs11574002	1.00[EUR][1000 genomes]
rs11574060	1.00[EUR][1000 genomes]
rs12320121	1.00[EUR][1000 genomes]
rs1793947	1.00[EUR][1000 genomes]
rs34116679	1.00[EUR][1000 genomes]
rs41272745	1.00[EUR][1000 genomes]
rs41272751	1.00[EUR][1000 genomes]
rs41272757	1.00[EUR][1000 genomes]
rs41272761	1.00[EUR][1000 genomes]
rs56265470	1.00[EUR][1000 genomes]
rs57550917	1.00[EUR][1000 genomes]
rs58279970	1.00[EUR][1000 genomes]
rs60556433	1.00[EUR][1000 genomes]
rs60719998	1.00[EUR][1000 genomes]
rs7316602	1.00[EUR][1000 genomes]
rs73297147	1.00[EUR][1000 genomes]
rs73297150	1.00[EUR][1000 genomes]
rs74085221	1.00[EUR][1000 genomes]
rs74085935	1.00[EUR][1000 genomes]
rs74088715	1.00[EUR][1000 genomes]
rs74088779	1.00[EUR][1000 genomes]
rs757357	1.00[EUR][1000 genomes]
rs7954412	1.00[EUR][1000 genomes]
rs7967673	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv470289	chr12:48110551-48180508	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
4	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv527470	chr12:48119955-48190166	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48167600-48174000	Enhancers	Spleen	Spleen
2	chr12:48168000-48174000	Enhancers	Fetal Thymus	thymus
3	chr12:48168000-48174200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:48168000-48174800	Weak transcription	Fetal Intestine Large	intestine
5	chr12:48168000-48175000	Weak transcription	NH-A	brain
6	chr12:48168000-48175400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:48168000-48177200	Weak transcription	Small Intestine	intestine
8	chr12:48168200-48174800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:48168200-48175600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:48168200-48195200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:48168400-48174800	Weak transcription	Primary T cells from cord blood	blood
12	chr12:48168600-48175600	Weak transcription	Liver	Liver
13	chr12:48168600-48178200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:48169000-48174200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:48169000-48177600	Weak transcription	Dnd41	blood
16	chr12:48169200-48174000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:48169200-48177600	Weak transcription	Fetal Lung	lung
18	chr12:48169200-48178600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:48169400-48174000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:48169400-48179200	Weak transcription	Fetal Kidney	kidney
21	chr12:48169800-48181200	Weak transcription	GM12878-XiMat	blood
22	chr12:48170400-48174600	Weak transcription	Thymus	Thymus
23	chr12:48170400-48174800	Weak transcription	Pancreas	Pancrea
24	chr12:48170600-48181200	Weak transcription	HepG2	liver
25	chr12:48171400-48174200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:48171400-48175000	Weak transcription	NHLF	lung
27	chr12:48171800-48174200	Weak transcription	NHEK	skin
28	chr12:48172000-48174600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:48172200-48175800	Weak transcription	Primary B cells from cord blood	blood
30	chr12:48172200-48177600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:48172400-48174800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:48172400-48174800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:48172400-48175000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:48172400-48175000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr12:48172400-48175200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:48172400-48175600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:48172400-48175600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:48172400-48175800	Weak transcription	HSMM	muscle
39	chr12:48172400-48176000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:48172400-48176200	Weak transcription	HUVEC	blood vessel
41	chr12:48172400-48177400	Weak transcription	HSMMtube	muscle
42	chr12:48172800-48175600	Weak transcription	Hela-S3	cervix
43	chr12:48173000-48174000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr12:48173000-48174600	Weak transcription	Lung	lung
45	chr12:48173000-48174800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:48173000-48175000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:48173000-48175000	Weak transcription	Colonic Mucosa	Colon
48	chr12:48173000-48175200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:48173000-48175600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:48173000-48175600	Weak transcription	NHDF-Ad	bronchial

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